Hearing loss and Waardenburg's syndrome: Implications for genetic counselling

1990 ◽  
Vol 104 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Valerie Newton
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Bilateral Sensorineural Hearing Loss ◽  
Asymmetric Configuration

AbstractTen families in which there were 79 individuals affected by Waardenburg's syndrome were examined for penetrance of sensorineural hearing loss and expressivity of the gene. There were 47 with Waardenburg syndrome Type 1 and 32 with Waardenburg syndrome Type II. Penetrance of senorineural hearing loss was calculated after exclusion of the probands and was found not to be significantly different between each syndrome type but to show marked interfamilial variation. A bilateral sensorineural hearing loss was present more frequently than unilateral with the proportion varying between families. Certain audiometric shapes were found to recur in the syndrome but, apart from possibly one asymmetric configuration, seem to have been described also in other conditions. The degree of hearing loss was very variable within and between families. The implications for genetic counselling are discussed and the advantages of basing risk factors upon individual families rather than syndrome types emphasized.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family

scholarly journals A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Junpei Hamada ◽  
Fumihiro Ochi ◽  
Yuka Sei ◽  
Koji Takemoto ◽  
Hiroki Hirai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hypogonadotropic Hypogonadism ◽  
Hirschsprung Disease ◽  
Kallmann Syndrome ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
First Case ◽  
Iris Depigmentation ◽  
Bilateral Sensorineural Hearing Loss

AbstractWe report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel SOX10 variant, c.124delC, p.Leu42Cysfs*67.

Study of 100 Patients with Bilateral Sensorineural Hearing Loss for Lipid Abnormalities

1978 ◽  
Vol 87 (3) ◽  
pp. 404-408 ◽  
Author(s):  
Louis D. Lowry ◽  
Steven R. Isaacson
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Type Ii ◽  
Chronological Order ◽  
Commercial Laboratory ◽  
Type Iv ◽  
Bilateral Sensorineural Hearing Loss ◽  
Lipid Abnormalities ◽  
Serum Testing

— One hundred persons were selected from our audiology records who showed at least 20 dB bilateral sensorineural hearing loss. The number 100 was picked for an adequate statistical analysis. The patients were taken from the chart files which are filed in chronological order. Letters were mailed with instructions for fasting 14 hours prior to testing except for the consumption of water. On presentation, a history was taken for diabetes, height and weight, and the blood pressure was recorded. The blood samples were drawn in clot tubes and taken to a commercial laboratory for overnight refrigeration and testing of the serum. Testing included observation of serum for massive chylomicronemia, triglycerides, cholesterol and lipoprotein electrophoresis (by the cellulose acetate method). Lipoprotein testing results showed 12 patients with Type II A or II B and 8 patients with Type IV abnormalities. No Types I, III or V were found. These 20 patients represent a lower number of hyperlipoproteinemic patients than would be expected in the general population.

scholarly journals Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism

2019 ◽  
Vol 39 (1) ◽  
pp. 60-62
Author(s):  
Kavinda Chandimal Dayasiri ◽  
Chamila Perera ◽  
Wasana Bandara ◽  
Jagath Ranasinghe
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Congenital Hypothyroidism ◽  
Autosomal Dominant ◽  
Incidental Finding ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Minor Criteria

Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.

Biological age and rates of aging of patients with vibration disease and bilateral sensorineural hearing loss

2020 ◽  
pp. 624-624
Author(s):  
S. I. Ereniev ◽  
O. V. Plotnikova
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Biological Age ◽  
Biological Aging ◽  
Vibration Disease ◽  
Bilateral Sensorineural Hearing Loss

Biological age and rates of aging of patients with vibration disease and bilateral sensorineural hearing loss were studied. The biological age of patients exceeded the calendar age by an average of 7.36±0.36 years and the proper biological age by 10.79±0.72 years. The rate of biological aging of the examined patients was 1.14±0.08 times higher than the rate of aging of their healthy peers.

Sudden bilateral sensorineural hearing loss associated with urticarial vasculitis

2013 ◽  
Vol 127 (7) ◽  
pp. 708-711 ◽  
Author(s):  
A C Hall ◽  
A C Leong ◽  
D Jiang ◽  
A Fitzgerald-O'Connor
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Skin Lesions ◽  
Sudden Hearing Loss ◽  
Sudden Onset ◽  
Sensorineural Hearing ◽  
Urticarial Vasculitis ◽  
Wells Syndrome ◽  
Bilateral Sensorineural Hearing Loss

AbstractBackground:Bilateral sensorineural hearing loss associated with recurrent urticarial skin lesions may be signs of underlying Muckle–Wells syndrome. Previous reports have described the hearing loss to be progressive in nature.Method:To our knowledge, this paper presents the first published case of sudden onset, bilateral sensorineural hearing loss associated with urticarial vasculitis due to underlying Muckle–Wells syndrome.Results:The patient underwent a cochlear implantation with a modest outcome.Conclusion:Cochlear implantation may help to rehabilitate sudden hearing loss associated with this condition, but early diagnosis may allow treatment with interleukin-1β inhibitors such as anakinra.

scholarly journals Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

2021 ◽  
Author(s):  
Suat Kılıç ◽  
Malek H. Bouzaher ◽  
Michael S. Cohen ◽  
Judith E. C. Lieu ◽  
Margaret Kenna ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Medical Evaluation ◽  
Bilateral Sensorineural Hearing Loss

Is simultaneous bilateral mastoidectomy ever advisable?

2007 ◽  
Vol 121 (11) ◽  
pp. 1041-1047 ◽  
Author(s):  
J J Klemens ◽  
E Mhoon ◽  
M Redleaf
Keyword(s):  
Hearing Loss ◽  
Decision Tree ◽  
Sensorineural Hearing Loss ◽  
Chart Review ◽  
Historical Data ◽  
Sensorineural Hearing ◽  
Opinion Survey ◽  
Potential Patient ◽  
Simultaneous Procedures ◽  
Bilateral Sensorineural Hearing Loss

AbstractIntroduction:We report our experience with bilateral, simultaneous tympanomastoidectomies and the results of an opinion survey of otologists.Methods:A chart review of 116 tympanomastoidectomies revealed 12 patients who underwent bilateral, simultaneous tympanomastoidectomies. An opinion survey generated 121 responses.Results:Of the 12 patients, none suffered any outcome which would have been avoided by staging the procedures. Twenty-three of 24 operated ears had the same or better hearing post-operatively. Of the survey respondents, 74 felt that performing bilateral, simultaneous tympanomastoidectomies was unsafe, largely because of the risk of bilateral sensorineural hearing loss.Discussion:Although bilateral, simultaneous tympanomastoidectomies carry double the risk of unilateral sensorineural hearing loss, compared with the unilateral procedure, the risk of bilateral sensorineural hearing loss is only 0.006–0.2 per cent, as derived mathematically from historical data. Respondents to the survey were mostly opposed to bilateral, simultaneous tympanomastoidectomies, but even those opposed gave indications for simultaneous procedures. This finding probably reflects an ambivalence about the theoretical risks of the operation versus the potential patient benefits. A decision tree for proceeding to the second case is presented.

Cochlear nerve anomalies in paediatric single-sided deafness – prevalence and implications for cochlear implantation strategies

2020 ◽  
pp. 1-4
Author(s):  
K Pollaers ◽  
A Thompson ◽  
J Kuthubutheen
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hearing Loss ◽  
Magnetic Resonance ◽  
Sensorineural Hearing Loss ◽  
Cochlear Nerve ◽  
Sensorineural Hearing ◽  
Resonance Imaging ◽  
Bilateral Sensorineural Hearing Loss ◽  
Single Sided Deafness ◽  
Cochlear Nerve Hypoplasia

Abstract Objective To determine the prevalence of cochlear nerve anomalies on magnetic resonance imaging in patients with unilateral or bilateral sensorineural hearing loss. Methods A retrospective case series was conducted at a tertiary referral centre. The inclusion criteria were paediatric patients with bilateral or unilateral sensorineural hearing loss, investigated with magnetic resonance imaging. The primary outcome measure was the rate of cochlear nerve hypoplasia or aplasia. Results Of the 72 patients with unilateral sensorineural hearing loss, 39 per cent (28 cases) had absent or hypoplastic cochlear nerves on the affected side. Fifteen per cent (11 cases) had other abnormal findings on magnetic resonance imaging. Eighty-four patients had bilateral sensorineural hearing loss, of which cochlear nerve hypoplasia or aplasia was identified only in 5 per cent (four cases). Other abnormal findings were identified in 14 per cent (12 cases). Conclusion Paediatric patients with unilateral sensorineural hearing loss are more likely to have cochlear nerve anomalies than those patients with bilateral sensorineural hearing loss. This has important implications regarding cochlear implantation for patients with single-sided deafness.

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